A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629850



Internal ID6505929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128735656..128769374hg38UCSC Ensembl
chr12:129220201..129253919hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3833719
hg1933719
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631146
Supporting Variants
SamplesNA20535
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629850
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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